Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-38543052-T-C c.*15A>G splice_region ANKRD18A 1 65478 1.52723E-5 32739 0 NA
9-38543238-G-C c.*12C>G splice_region ANKRD18A 1 79546 1.25713E-5 39773 0 NA
9-38543273-C-T p.Ala199Thr missense ANKRD18A 1 79604 1.25622E-5 39802 0 7.61151E-5
9-38543274-G-A p.Ile198Ile synonymous ANKRD18A 2 79612 2.51218E-5 39806 0 7.17782E-6
9-38543286-C-T p.Glu194Glu synonymous ANKRD18A 23 79616 2.88887E-4 39808 0 3.82093E-4
9-38543304-C-T p.Thr188Thr synonymous ANKRD18A 1 79612 1.25609E-5 39806 0 6.64894E-4
9-38543312-C-T p.Glu186Lys missense ANKRD18A 6 79638 7.53409E-5 39819 0 7.06115E-5
9-38543319-G-T p.Leu183Leu synonymous ANKRD18A 9 79606 1.13057E-4 39803 0 1.59226E-4
9-38543342-C-T p.Gly176Ser missense ANKRD18A 5 79486 6.29042E-5 39743 0 1.42355E-5
9-38543343-G-A p.Pro175Pro synonymous ANKRD18A 1 79430 1.25897E-5 39715 0 NA
9-38543353-G-A p.Thr172Ile missense ANKRD18A 1 79368 1.25995E-5 39684 0 3.1841E-5
9-38543355-C-T p.Arg171Arg synonymous ANKRD18A 1 79348 1.26027E-5 39674 0 NA
9-38543450-C-A n.543+8G>T splice_region ANKRD18A 1 78182 1.27907E-5 39091 0 7.1662E-6
9-38543457-C-T n.543+1G>A splice_donor ANKRD18A 2 78162 2.55879E-5 39081 0 7.17103E-6
9-38543477-T-C p.Tyr175Cys missense ANKRD18A 146 78128 0.00186873 39064 1 0.00356686
9-38543492-A-T p.Met170Lys missense+splice_region ANKRD18A 1 78058 1.2811E-5 39029 0 NA
9-38543495-T-C n.508-2A>G splice_acceptor ANKRD18A 1 78042 1.28136E-5 39021 0 NA
9-38571130-C-A p.Ala166Ser missense ANKRD18A 5858 76450 0.0766252 38225 432 0.0973612
9-38571130-C-T p.Ala166Thr missense ANKRD18A 1 76934 1.29982E-5 38467 0 NA
9-38571138-GTTC-G p.Arg162del disruptive_inframe_deletion ANKRD18A 9 76994 1.16892E-4 38497 0 NA
9-38571146-G-A p.Asn160Asn synonymous ANKRD18A 1 77036 1.29809E-5 38518 0 NA
9-38571147-T-C p.Asn160Ser missense ANKRD18A 2 77040 2.59605E-5 38520 0 3.18471E-5
9-38571148-T-G p.Asn160His missense ANKRD18A 1 77038 1.29806E-5 38519 0 7.41532E-6
9-38571163-G-A p.Arg155Cys missense ANKRD18A 2395 76866 0.0311581 38433 58 0.0433106
9-38571165-A-G p.Met154Thr missense ANKRD18A 1 77034 1.29813E-5 38517 0 NA
9-38571180-C-T p.Arg149Gln missense ANKRD18A 2 76950 2.59909E-5 38475 0 1.50453E-5
9-38571181-G-T p.Arg149Arg synonymous ANKRD18A 1 76914 1.30015E-5 38457 0 NA
9-38571191-C-T p.Arg145Arg synonymous ANKRD18A 1 76790 1.30225E-5 38395 0 NA
9-38571204-G-A c.428-6C>T splice_region ANKRD18A 9 76280 1.17986E-4 38140 0 3.73301E-5
9-38571995-T-C c.427+8A>G splice_region ANKRD18A 1 79602 1.25625E-5 39801 0 NA
9-38572002-C-G c.427+1G>C splice_donor ANKRD18A 1 79736 1.25414E-5 39868 0 8.38912E-5
9-38572016-A-C p.Phe138Leu missense ANKRD18A 1 79722 1.25436E-5 39861 0 8.38504E-6
9-38572029-C-T p.Arg134His missense ANKRD18A 2 79526 2.5149E-5 39763 0 2.27149E-5
9-38572030-G-A p.Arg134Cys missense ANKRD18A 4 79506 5.03107E-5 39753 0 9.55414E-5
9-38572048-T-C p.Met128Val missense ANKRD18A 3 79212 3.78731E-5 39606 0 5.978E-5
9-38572051-C-A p.Ala127Ser missense ANKRD18A 8 79150 1.01074E-4 39575 0 3.00352E-4
9-38573073-C-T c.373+8G>A splice_region ANKRD18A 1 69342 1.44213E-5 34671 0 NA
9-38573106-T-C p.Glu116Glu synonymous ANKRD18A 1 70126 1.426E-5 35063 0 NA
9-38573113-C-T p.Arg114His missense ANKRD18A 2 69758 2.86705E-5 34879 0 1.09859E-4
9-38573117-C-G p.Asp113His missense ANKRD18A 2 69494 2.87795E-5 34747 0 NA
9-38573126-T-C p.Met110Val missense+splice_region ANKRD18A 21 67996 3.08842E-4 33998 0 7.01799E-4
9-38575467-A-T c.327+6T>A splice_region ANKRD18A 1 80282 1.24561E-5 40141 0 NA
9-38575472-C-T c.327+1G>A splice_donor ANKRD18A 1 80340 1.24471E-5 40170 0 4.72769E-5
9-38575473-C-T p.Glu109Glu splice_region+synonymous ANKRD18A 1 80348 1.24459E-5 40174 0 NA
9-38575483-A-G p.Phe106Ser missense ANKRD18A 3 80492 3.72708E-5 40246 0 1.27579E-5
9-38575506-C-CTG p.Gln98fs frameshift ANKRD18A 1 80866 1.23661E-5 40433 0 NA
9-38575532-T-C p.Ile90Val missense ANKRD18A 533 81040 0.006577 40520 5 0.019802
9-38575536-C-T p.Thr88Thr synonymous ANKRD18A 2 81066 2.46713E-5 40533 0 6.26566E-4
9-38575537-G-A p.Thr88Met missense ANKRD18A 45 81042 5.55268E-4 40521 0 0.0025
9-38575547-T-A p.Ile85Phe missense ANKRD18A 1 81108 1.23292E-5 40554 0 3.18792E-5
9-38575548-A-G p.Tyr84Tyr synonymous ANKRD18A 1 81112 1.23286E-5 40556 0 6.37536E-6
9-38575550-A-G p.Tyr84His missense ANKRD18A 1 81120 1.23274E-5 40560 0 9.06783E-5
9-38575558-T-C p.Asn81Ser missense ANKRD18A 1 81140 1.23244E-5 40570 0 1.27492E-5
9-38575560-G-A p.Leu80Leu synonymous ANKRD18A 1 81146 1.23235E-5 40573 0 NA
9-38575572-A-G p.Asn76Asn synonymous ANKRD18A 1 81198 1.23156E-5 40599 0 NA
9-38575575-A-C p.Leu75Leu synonymous ANKRD18A 13 81218 1.60063E-4 40609 0 6.25E-4
9-38575575-A-T p.Leu75Leu synonymous ANKRD18A 1 81220 1.23122E-5 40610 0 NA
9-38575583-C-G p.Glu73Gln missense ANKRD18A 2 81238 2.4619E-5 40619 0 NA
9-38575599-T-C p.Pro67Pro synonymous ANKRD18A 3 81240 3.69276E-5 40620 0 4.95763E-4
9-38575602-T-G p.Glu66Asp missense ANKRD18A 3210 81148 0.0395574 40574 102 0.059375
9-38575606-G-A p.Pro65Leu missense ANKRD18A 1 81242 1.23089E-5 40621 0 NA
9-38575611-T-C p.Thr63Thr synonymous ANKRD18A 500 81122 0.00616356 40561 6 0.0115887
9-38575611-TG-CA p.Thr63Met missense ANKRD18A 25 81238 3.07738E-4 40619 0 NA
9-38575612-G-A p.Thr63Ile missense ANKRD18A 522 81178 0.00643031 40589 6 0.0114599
9-38575620-A-G p.Thr60Thr synonymous ANKRD18A 1 81244 1.23086E-5 40622 0 NA
9-38575622-T-C p.Thr60Ala missense ANKRD18A 1 81246 1.23083E-5 40623 0 7.96128E-4
9-38575623-G-A p.Ser59Ser synonymous ANKRD18A 2 81248 2.4616E-5 40624 0 7.96178E-4
9-38575624-C-T p.Ser59Asn missense ANKRD18A 1 81244 1.23086E-5 40622 0 4.47427E-5
9-38575628-G-A p.Leu58Phe missense ANKRD18A 2 81244 2.46172E-5 40622 0 NA
9-38575637-T-C p.Lys55Glu missense ANKRD18A 1991 81192 0.0245221 40596 33 0.0290335
9-38575640-T-C p.Met54Val missense ANKRD18A 2 81232 2.46208E-5 40616 0 NA
9-38575642-C-T p.Arg53Gln missense ANKRD18A 33 81226 4.06274E-4 40613 0 3.61386E-4
9-38575642-C-G p.Arg53Pro missense ANKRD18A 3 81226 3.6934E-5 40613 0 4.43808E-5
9-38575645-T-C p.Gln52Arg missense ANKRD18A 1 81236 1.23098E-5 40618 0 NA
9-38575646-G-C p.Gln52Glu missense ANKRD18A 11 81226 1.35425E-4 40613 0 4.88715E-4
9-38575650-C-T p.Glu50Glu synonymous ANKRD18A 1 81238 1.23095E-5 40619 0 NA
9-38575653-C-T p.Thr49Thr synonymous ANKRD18A 18 81228 2.21598E-4 40614 1 1.32979E-4
9-38575654-G-A p.Thr49Met missense ANKRD18A 7 81216 8.61899E-5 40608 0 1.91095E-4
9-38575659-G-GATTATAATT p.Leu47_Phe48insIleIleIle disruptive_inframe_insertion ANKRD18A 2 81216 2.46257E-5 40608 0 NA
9-38575676-C-T p.Val42Met missense ANKRD18A 1 81176 1.23189E-5 40588 0 1.33085E-4
9-38575677-T-A p.Ala41Ala synonymous ANKRD18A 35 81170 4.31194E-4 40585 0 0.003125
9-38575682-T-C p.Ile40Val missense ANKRD18A 54 81156 6.65385E-4 40578 1 0.0010826
9-38575692-C-T p.Ser36Ser synonymous ANKRD18A 1 81096 1.23311E-5 40548 0 1.35306E-4
9-38575693-G-A p.Ser36Leu missense+splice_region ANKRD18A 1 81084 1.23329E-5 40542 0 NA
9-38575695-T-G p.Lys35Asn missense+splice_region ANKRD18A 35 81064 4.31758E-4 40532 0 0.00101891
9-38577044-A-G c.104+6T>C splice_region ANKRD18A 1 79984 1.25025E-5 39992 0 NA
9-38577047-T-TAC c.104+2_104+3insGT splice_donor ANKRD18A 2 80018 2.49944E-5 40009 0 NA
9-38577051-T-G p.Lys35Gln missense+splice_region ANKRD18A 1 80086 1.24866E-5 40043 0 NA
9-38577057-A-G p.Leu33Leu synonymous ANKRD18A 1 80154 1.2476E-5 40077 0 NA
9-38577066-A-G p.Ser30Pro missense ANKRD18A 21 80306 2.615E-4 40153 0 4.7879E-5
9-38577087-C-T p.Val23Met missense ANKRD18A 13 80628 1.61234E-4 40314 0 5.09489E-4
9-38577092-C-G p.Gly21Ala missense ANKRD18A 3241 80530 0.0402459 40265 94 0.05
9-38577101-G-A p.Ala18Val missense ANKRD18A 3247 80602 0.0402844 40301 94 0.045356
9-38577101-G-C p.Ala18Gly missense ANKRD18A 2 80752 2.47672E-5 40376 0 1.93683E-5
9-38577102-C-T p.Ala18Thr missense ANKRD18A 2 80750 2.47678E-5 40375 0 3.18512E-5
9-38577116-T-C p.Glu13Gly missense ANKRD18A 1 80776 1.23799E-5 40388 0 6.43583E-6
9-38577121-TTCAG-T p.Thr10fs frameshift ANKRD18A 1 80768 1.23811E-5 40384 0 6.42583E-6
9-38577130-A-G p.Val8Val synonymous ANKRD18A 2 80784 2.47574E-5 40392 0 NA
9-38577155-T-A p.Lys879Ile missense ANKRD18A 2 80638 2.48022E-5 40319 0 NA
9-38577161-A-G p.Phe877Ser missense ANKRD18A 2 80596 2.48151E-5 40298 0 4.87852E-5
9-38577167-C-A p.Cys875Phe missense ANKRD18A 3 80504 3.72652E-5 40252 0 4.90918E-5
9-38577171-C-T p.Glu874Lys missense ANKRD18A 1 80416 1.24353E-5 40208 0 NA
9-38577176-T-A p.Asp872Val missense ANKRD18A 1 80384 1.24403E-5 40192 0 6.45978E-6
9-38577197-T-C p.Lys865Arg missense ANKRD18A 1 80076 1.24881E-5 40038 0 5.06534E-5
9-38577199-T-G p.Lys864Asn missense ANKRD18A 1 80046 1.24928E-5 40023 0 6.37186E-5
9-38577204-G-A p.Leu863Leu synonymous ANKRD18A 3 79974 3.75122E-5 39987 0 NA
9-38577211-C-T p.Thr860Thr synonymous ANKRD18A 1 79872 1.252E-5 39936 0 6.38203E-5
9-38577236-A-G p.Leu852Ser missense ANKRD18A 1 79480 1.25818E-5 39740 0 3.18573E-5
9-38577239-T-C p.Gln851Arg missense ANKRD18A 4158 77484 0.0536627 38742 153 0.0588348
9-38577261-T-C p.Lys844Glu missense+splice_region ANKRD18A 2 77842 2.56931E-5 38921 0 7.60665E-6
9-38577870-A-T p.His841Gln missense ANKRD18A 1 77968 1.28258E-5 38984 0 NA
9-38577883-A-T p.Leu837* stop_gained ANKRD18A 1 78592 1.27239E-5 39296 0 NA
9-38577885-T-C p.Lys836Lys synonymous ANKRD18A 1 78658 1.27133E-5 39329 0 NA
9-38577892-A-G p.Ile834Thr missense ANKRD18A 1 78822 1.26868E-5 39411 0 4.5811E-6
9-38577898-T-G p.Gln832Pro missense ANKRD18A 3 79010 3.79699E-5 39505 0 3.41192E-5
9-38577905-C-G p.Ala830Pro missense ANKRD18A 1 79080 1.26454E-5 39540 0 NA
9-38577906-C-T p.Arg829Arg synonymous ANKRD18A 1 79184 1.26288E-5 39592 0 NA
9-38577914-C-T p.Asp827Asn missense ANKRD18A 30 79240 3.78597E-4 39620 0 6.32911E-4
9-38577916-A-G p.Leu826Pro missense ANKRD18A 1 79284 1.26129E-5 39642 0 NA
9-38577921-C-T p.Ser824Ser synonymous ANKRD18A 1 79286 1.26126E-5 39643 0 1.83439E-5
9-38577926-T-G p.Lys823Gln missense ANKRD18A 5 79504 6.28899E-5 39752 0 9.55231E-5
9-38577937-A-ATTTCCCT p.Leu819fs frameshift ANKRD18A 1 79648 1.25552E-5 39824 0 NA
9-38577938-G-GATGATTAGTGATACTGAACA p.Leu819fs frameshift ANKRD18A 1 79678 1.25505E-5 39839 0 NA
9-38577940-T-G p.Lys818Thr missense ANKRD18A 1 79700 1.25471E-5 39850 0 2.02716E-5
9-38577941-T-C p.Lys818Glu missense ANKRD18A 1 79728 1.25426E-5 39864 0 6.36902E-5
9-38577943-C-G p.Gly817Ala missense ANKRD18A 1 79786 1.25335E-5 39893 0 NA
9-38577946-A-G p.Leu816Pro missense ANKRD18A 1 79920 1.25125E-5 39960 0 NA
9-38577967-A-G p.Met809Thr missense ANKRD18A 1 80534 1.24171E-5 40267 0 1.57001E-5
9-38577968-T-C p.Met809Val missense ANKRD18A 2 80534 2.48342E-5 40267 0 NA
9-38577978-A-T p.Leu805Leu synonymous ANKRD18A 1 80556 1.24137E-5 40278 0 2.15411E-4
9-38577980-G-A p.Leu805Phe missense ANKRD18A 1 80558 1.24134E-5 40279 0 2.17459E-4
9-38577986-A-G p.Leu803Leu synonymous ANKRD18A 30 80592 3.72245E-4 40296 0 6.40205E-4
9-38577988-ACTT-A p.Glu801del disruptive_inframe_deletion ANKRD18A 2 80580 2.48201E-5 40290 0 NA
9-38577989-C-T p.Val802Ile missense ANKRD18A 12 80588 1.48906E-4 40294 0 1.39528E-4
9-38577995-C-T p.Glu800Lys missense ANKRD18A 1 80554 1.2414E-5 40277 0 NA
9-38578008-T-G p.Lys795Asn missense ANKRD18A 1 80526 1.24183E-5 40263 0 NA
9-38578014-C-T p.Lys793Lys synonymous ANKRD18A 2 80486 2.4849E-5 40243 0 3.04136E-4
9-38578019-C-T p.Glu792Lys missense ANKRD18A 2 80466 2.48552E-5 40233 0 NA
9-38578022-G-GC p.Leu791fs frameshift ANKRD18A 12 80490 1.49087E-4 40245 0 2.55254E-4
9-38578027-T-C p.Glu789Gly missense ANKRD18A 12 80486 1.49094E-4 40243 0 2.57732E-4
9-38578067-G-A p.Gln776* stop_gained ANKRD18A 1 80076 1.24881E-5 40038 0 6.38888E-6
9-38578081-T-C p.Asn771Ser missense ANKRD18A 5 79926 6.25579E-5 39963 0 6.25E-4
9-38578083-G-A p.Asp770Asp synonymous ANKRD18A 2 79880 2.50376E-5 39940 0 NA
9-38578095-A-G p.Asn766Asn synonymous ANKRD18A 1 79804 1.25307E-5 39902 0 NA
9-38578101-A-G p.Cys764Cys synonymous ANKRD18A 13 79760 1.62989E-4 39880 0 4.13881E-4
9-38578102-C-T p.Cys764Tyr missense ANKRD18A 3 79778 3.76044E-5 39889 0 1.29609E-5
9-38578103-A-C p.Cys764Gly missense ANKRD18A 1 79754 1.25386E-5 39877 0 6.47878E-6
9-38578119-T-C p.Glu758Glu synonymous ANKRD18A 1 79602 1.25625E-5 39801 0 NA
9-38578125-C-G p.Glu756Asp missense ANKRD18A 1 79462 1.25846E-5 39731 0 6.66711E-6
9-38578128-G-A p.Ala755Ala synonymous ANKRD18A 2 79324 2.52131E-5 39662 0 4.60066E-5
9-38578133-C-T p.Val754Met missense ANKRD18A 2 79360 2.52016E-5 39680 0 NA
9-38578136-G-T p.Leu753Ile missense ANKRD18A 1 79294 1.26113E-5 39647 0 1.34562E-5
9-38578140-A-T p.Asn751Lys missense ANKRD18A 1 79194 1.26272E-5 39597 0 3.1837E-5
9-38578148-G-A c.2248-3C>T splice_region ANKRD18A 1 78924 1.26704E-5 39462 0 7.2149E-6
9-38578148-G-T c.2248-3C>A splice_region ANKRD18A 1 78922 1.26707E-5 39461 0 NA
9-38578149-C-A c.2248-4G>T splice_region ANKRD18A 3 78912 3.8017E-5 39456 0 NA
9-38578153-A-G c.2248-8T>C splice_region ANKRD18A 5054 78620 0.0642839 39310 213 0.0796331
9-38586203-G-T p.Leu742Met missense ANKRD18A 40 78550 5.0923E-4 39275 0 0.00514139
9-38586219-T-C p.Gln736Gln synonymous ANKRD18A 1 78622 1.27191E-5 39311 0 NA
9-38586247-C-T p.Ser727Asn missense ANKRD18A 1395 78500 0.0177707 39250 18 0.0230284
9-38586259-T-C p.Asn723Ser missense ANKRD18A 1 78652 1.27142E-5 39326 0 2.94762E-5
9-38586267-T-C p.Ala720Ala synonymous ANKRD18A 1 78620 1.27194E-5 39310 0 2.77878E-5
9-38586277-A-G p.Met717Thr missense ANKRD18A 3 78574 3.81806E-5 39287 0 3.18512E-5
9-38586298-C-A p.Cys710Phe missense ANKRD18A 3 78476 3.82282E-5 39238 0 0.00119127
9-38586298-C-G p.Cys710Ser missense ANKRD18A 2 78476 2.54855E-5 39238 0 6.37105E-5
9-38586306-A-T p.Tyr707* stop_gained ANKRD18A 2 78460 2.54907E-5 39230 0 9.9558E-6
9-38586317-A-C c.2118-8T>G splice_region ANKRD18A 1 78386 1.27574E-5 39193 0 NA
9-38586317-A-T c.2118-8T>A splice_region ANKRD18A 1 78386 1.27574E-5 39193 0 5.40219E-6
9-38588554-G-A p.Ala704Val missense ANKRD18A 6 72172 8.31347E-5 36086 0 3.18613E-5
9-38588557-T-A p.Glu703Val missense ANKRD18A 1 72506 1.3792E-5 36253 0 NA
9-38588573-G-A p.Arg698Cys missense ANKRD18A 260 72740 0.00357437 36370 4 0.00804033
9-38588595-C-T p.Ala690Ala synonymous ANKRD18A 10 73090 1.36818E-4 36545 0 2.23271E-4
9-38588596-G-A p.Ala690Val missense ANKRD18A 5 72934 6.85551E-5 36467 0 0.00117085
9-38588599-G-A p.Thr689Ile missense ANKRD18A 2 73462 2.7225E-5 36731 0 1.06535E-5
9-38588602-T-C p.Tyr688Cys missense ANKRD18A 22199 72494 0.306218 36247 3783 0.380522
9-38588605-T-C p.Asn687Ser missense ANKRD18A 2 73498 2.72116E-5 36749 0 3.20225E-5
9-38588614-G-T p.Ser684* stop_gained ANKRD18A 1 73408 1.36225E-5 36704 0 NA
9-38588616-T-C p.Ile683Met missense ANKRD18A 1 73456 1.36136E-5 36728 0 NA
9-38588617-A-G p.Ile683Thr missense ANKRD18A 1 73438 1.36169E-5 36719 0 NA
9-38588620-A-G p.Leu682Ser missense ANKRD18A 527 73288 0.00719081 36644 2 0.0112796
9-38588622-T-C p.Glu681Glu synonymous ANKRD18A 3 73448 4.08452E-5 36724 0 NA
9-38588646-ATGT-A p.Lys672_His673delinsAsn disruptive_inframe_deletion ANKRD18A 1 73062 1.3687E-5 36531 0 NA
9-38588655-T-A p.Glu670Asp missense ANKRD18A 1 72800 1.37363E-5 36400 0 NA
9-38588656-T-TTTAGATATAAAACATATCATGGAAATTTACTCATTTTACATGGGTACCTCCATTGTATA p.Glu670fs frameshift ANKRD18A 1 72698 1.37555E-5 36349 0 NA
9-38588661-CT-C c.2005-2delA splice_acceptor ANKRD18A 1 72012 1.38866E-5 36006 0 NA
9-38593778-TTTC-T p.Lys661del disruptive_inframe_deletion ANKRD18A 2 77522 2.57991E-5 38761 0 NA
9-38593780-T-G p.Lys661Gln missense ANKRD18A 1 77518 1.29002E-5 38759 0 3.18492E-5
9-38593794-C-T p.Trp656* stop_gained ANKRD18A 2 77688 2.5744E-5 38844 0 NA
9-38593807-A-G p.Leu652Leu synonymous ANKRD18A 1 77716 1.28674E-5 38858 0 NA
9-38593809-T-C p.Asn651Ser missense ANKRD18A 1 77712 1.2868E-5 38856 0 NA
9-38593820-A-G p.His647His synonymous ANKRD18A 1 77712 1.2868E-5 38856 0 4.59474E-5
9-38593831-C-T p.Gly644Ser missense ANKRD18A 1 77734 1.28644E-5 38867 0 NA
9-38593837-G-A p.Leu642Leu synonymous ANKRD18A 1 77764 1.28594E-5 38882 0 NA
9-38593860-G-A p.Thr634Ile missense ANKRD18A 1 77576 1.28906E-5 38788 0 3.18431E-5
9-38593874-G-A p.Val629Val synonymous ANKRD18A 1 76862 1.30103E-5 38431 0 NA
9-38593880-T-C p.Glu627Glu synonymous ANKRD18A 3 76780 3.90727E-5 38390 0 8.37956E-6
9-38593912-A-G c.1855-6T>C splice_region ANKRD18A 1 75966 1.31638E-5 37983 0 NA
9-38593914-A-C c.1855-8T>G splice_region ANKRD18A 1 75940 1.31683E-5 37970 0 NA
9-38595485-CTCTT-C p.Arg617fs frameshift ANKRD18A 1 75260 1.32873E-5 37630 0 1.06022E-4
9-38595490-T-TC p.Glu616fs frameshift ANKRD18A 1 75438 1.32559E-5 37719 0 NA
9-38595495-T-A p.Lys614Asn missense ANKRD18A 1 75624 1.32233E-5 37812 0 NA
9-38595503-T-C p.Lys612Glu missense ANKRD18A 1 75888 1.31773E-5 37944 0 NA
9-38595508-C-T p.Cys610Tyr missense ANKRD18A 78 75610 0.00103161 37805 0 0.0068563
9-38595508-C-G p.Cys610Ser missense ANKRD18A 2 76034 2.6304E-5 38017 0 NA
9-38595516-C-A p.Leu607Leu synonymous ANKRD18A 1 76346 1.30983E-5 38173 0 3.18735E-5
9-38595527-T-C p.Lys604Glu missense ANKRD18A 1 76556 1.30623E-5 38278 0 8.08316E-6
9-38595543-T-C p.Lys598Lys synonymous ANKRD18A 1 77070 1.29752E-5 38535 0 NA
9-38595548-T-C p.Met597Val missense ANKRD18A 2 77196 2.59081E-5 38598 0 NA
9-38595554-C-A p.Glu595* stop_gained ANKRD18A 1 77300 1.29366E-5 38650 0 NA
9-38595554-C-T p.Glu595Lys missense ANKRD18A 1 77300 1.29366E-5 38650 0 1.36827E-5
9-38595588-A-T p.Asn583Lys missense ANKRD18A 1 77640 1.288E-5 38820 0 4.66418E-5
9-38595636-G-A p.Gly567Gly synonymous ANKRD18A 4 77882 5.13597E-5 38941 0 1.91534E-4
9-38595646-C-T p.Arg564His missense ANKRD18A 3 77906 3.85079E-5 38953 0 7.81525E-5
9-38595651-A-T p.Asp562Glu missense ANKRD18A 2 77916 2.56687E-5 38958 0 NA
9-38595660-T-A p.Gln559His missense ANKRD18A 22 77928 2.82312E-4 38964 0 6.0525E-4
9-38595660-T-C p.Gln559Gln synonymous ANKRD18A 1 77928 1.28324E-5 38964 0 6.37105E-5
9-38595730-A-G p.Ile536Thr missense ANKRD18A 1 77920 1.28337E-5 38960 0 2.58114E-5
9-38595733-G-A p.Ser535Phe missense ANKRD18A 1 77906 1.2836E-5 38953 0 3.18552E-5
9-38595735-TTGAC-T p.Ser533fs frameshift ANKRD18A 3 77896 3.85129E-5 38948 0 NA
9-38595752-C-T p.Glu529Lys missense ANKRD18A 1 77914 1.28347E-5 38957 0 4.42831E-5
9-38595787-C-T p.Arg517Gln missense ANKRD18A 1 77946 1.28294E-5 38973 0 1.76772E-4
9-38595797-C-T p.Ala514Thr missense ANKRD18A 3 77962 3.84803E-5 38981 0 3.18552E-5
9-38595807-G-T p.Asp510Glu missense ANKRD18A 1 77944 1.28297E-5 38972 0 6.37308E-5
9-38595813-C-T p.Gln508Gln synonymous ANKRD18A 1 77950 1.28287E-5 38975 0 NA
9-38595814-T-G p.Gln508Pro missense ANKRD18A 1 77948 1.28291E-5 38974 0 3.23031E-5
9-38595820-C-T p.Ser506Asn missense ANKRD18A 7 77930 8.98242E-5 38965 0 8.83314E-5
9-38595862-T-C p.Glu492Gly missense ANKRD18A 1 77764 1.28594E-5 38882 0 1.29705E-5
9-38595865-C-T p.Arg491His missense ANKRD18A 6 77750 7.71704E-5 38875 0 1.7854E-4
9-38595866-G-A p.Arg491Cys missense ANKRD18A 3 77728 3.85961E-5 38864 0 3.18613E-5
9-38595886-T-C p.Asn484Ser missense ANKRD18A 18333 77438 0.236744 38719 2464 0.301008
9-38595898-C-A p.Arg480Leu missense ANKRD18A 3 77686 3.8617E-5 38843 0 NA
9-38595899-G-A p.Arg480Trp missense ANKRD18A 3 77710 3.86051E-5 38855 0 1.27421E-4
9-38595907-T-C p.His477Arg missense ANKRD18A 1 77722 1.28664E-5 38861 0 NA
9-38595910-A-G p.Val476Ala missense ANKRD18A 4 77728 5.14615E-5 38864 0 1.95623E-4
9-38595962-C-A p.Gly459Cys missense ANKRD18A 1 78036 1.28146E-5 39018 0 NA
9-38595964-A-AT p.Met458fs frameshift ANKRD18A 1 78036 1.28146E-5 39018 0 6.5235E-6
9-38595967-T-G p.Lys457Thr missense ANKRD18A 1 78056 1.28113E-5 39028 0 3.1835E-5
9-38595974-G-C p.His455Asp missense ANKRD18A 1 78054 1.28116E-5 39027 0 NA
9-38595979-G-A p.Ser453Phe missense ANKRD18A 2 78080 2.56148E-5 39040 0 NA
9-38595998-A-G p.Trp447Arg missense ANKRD18A 14 78152 1.79138E-4 39076 0 0.00478469
9-38596021-C-T p.Arg439Lys missense ANKRD18A 1 78208 1.27864E-5 39104 0 NA
9-38596028-C-A p.Val437Leu missense ANKRD18A 1 78220 1.27845E-5 39110 0 NA
9-38596031-T-C p.Ile436Val missense ANKRD18A 2 78226 2.55669E-5 39113 0 NA
9-38596035-A-G p.Asn434Asn synonymous ANKRD18A 5 78228 6.39157E-5 39114 0 5.82449E-5
9-38596059-C-T p.Leu426Leu synonymous ANKRD18A 844 78196 0.0107934 39098 6 0.0167859
9-38596069-T-C p.His423Arg missense ANKRD18A 1 78232 1.27825E-5 39116 0 NA
9-38596080-A-G p.Val419Val synonymous ANKRD18A 302 78234 0.00386021 39117 2 0.00684932
9-38596087-G-A p.Ala417Val missense ANKRD18A 1 78258 1.27782E-5 39129 0 3.18451E-5
9-38596089-T-G p.Glu416Asp missense ANKRD18A 1 78248 1.27799E-5 39124 0 6.47954E-6
9-38596107-G-A p.His410His synonymous ANKRD18A 2 78260 2.55558E-5 39130 0 NA
9-38596116-C-A p.Lys407Asn missense ANKRD18A 5 78242 6.39043E-5 39121 0 7.15094E-5
9-38596116-C-T p.Lys407Lys synonymous ANKRD18A 2 78236 2.55637E-5 39118 0 1.30017E-5
9-38596117-T-G p.Lys407Thr missense ANKRD18A 302 78240 0.00385992 39120 2 0.00678474
9-38596136-G-C p.Leu401Val missense ANKRD18A 1 78276 1.27753E-5 39138 0 NA
9-38596155-C-G p.Leu394Leu synonymous ANKRD18A 1 78324 1.27675E-5 39162 0 6.5937E-6
9-38596156-A-T p.Leu394Gln missense ANKRD18A 3 78324 3.83024E-5 39162 0 6.37064E-5
9-38596173-C-T p.Ser388Ser synonymous ANKRD18A 15 78342 1.91468E-4 39171 0 6.25E-4
9-38596174-GA-G p.Ser388fs frameshift ANKRD18A 2 78350 2.55265E-5 39175 0 1.35549E-5
9-38596176-A-G p.Tyr387Tyr synonymous ANKRD18A 2 78392 2.55128E-5 39196 0 NA
9-38596180-C-T p.Arg386Gln missense ANKRD18A 10 78400 1.27551E-4 39200 0 1.27421E-4
9-38596181-G-A p.Arg386Trp missense ANKRD18A 3 78398 3.82663E-5 39199 0 9.5584E-5
9-38596184-C-A p.Ala385Ser missense ANKRD18A 8 78398 1.02043E-4 39199 0 1.0274E-4
9-38596186-A-T p.Val384Glu missense ANKRD18A 39 78430 4.97259E-4 39215 0 3.24474E-4
9-38596202-T-C p.Met379Val missense ANKRD18A 1 78448 1.27473E-5 39224 0 NA
9-38596203-T-A p.Lys378Asn missense ANKRD18A 1 78454 1.27463E-5 39227 0 7.04057E-6
9-38596212-G-A p.Leu375Leu synonymous ANKRD18A 1 78444 1.27479E-5 39222 0 NA
9-38596235-T-C p.Asn368Asp missense ANKRD18A 1 78448 1.27473E-5 39224 0 4.7353E-5
9-38596255-C-T p.Ser361Asn missense ANKRD18A 14 78654 1.77995E-4 39327 0 2.11476E-5
9-38596263-T-A p.Glu358Asp missense ANKRD18A 1 78764 1.26962E-5 39382 0 NA
9-38596272-A-G p.Tyr355Tyr synonymous ANKRD18A 299 79012 0.00378424 39506 2 0.00684975
9-38596283-C-T p.Glu352Lys missense ANKRD18A 1 79248 1.26186E-5 39624 0 4.88281E-5
9-38596294-C-T p.Ser348Asn missense ANKRD18A 22 79494 2.7675E-4 39747 0 5.09814E-4
9-38596300-T-A p.Asn346Ile missense ANKRD18A 2 79578 2.51326E-5 39789 0 2.1821E-5
9-38596301-T-C p.Asn346Asp missense ANKRD18A 23 79592 2.88974E-4 39796 0 0.00250313
9-38596314-TA-T p.Leu341fs frameshift ANKRD18A 2 79924 2.50238E-5 39962 0 NA
9-38596352-T-C p.Met329Val missense ANKRD18A 1 80066 1.24897E-5 40033 0 9.45555E-6
9-38596360-C-T p.Gly326Glu missense ANKRD18A 1 80036 1.24944E-5 40018 0 NA
9-38596368-C-T p.Ala323Ala synonymous ANKRD18A 2 79810 2.50595E-5 39905 0 4.28669E-5
9-38596369-G-T p.Ala323Glu missense ANKRD18A 1 79766 1.25367E-5 39883 0 NA
9-38596369-G-A p.Ala323Val missense ANKRD18A 3 79766 3.761E-5 39883 0 7.65697E-5
9-38596371-A-T p.Asp322Glu missense ANKRD18A 1 79888 1.25175E-5 39944 0 1.09089E-5
9-38596372-T-C p.Asp322Gly missense ANKRD18A 1 79898 1.2516E-5 39949 0 1.1072E-5
9-38596385-C-T p.Gly318Arg missense ANKRD18A 4 79238 5.04808E-5 39619 0 6.25782E-4
9-38596386-G-A p.Tyr317Tyr synonymous ANKRD18A 7 79242 8.8337E-5 39621 0 3.48371E-4
9-38596390-C-T p.Ser316Asn missense ANKRD18A 1 79236 1.26205E-5 39618 0 NA
9-38601125-T-G c.936+3A>C splice_region ANKRD18A 1 79568 1.25679E-5 39784 0 NA
9-38601133-G-T p.Pro311Thr missense ANKRD18A 1 80008 1.24988E-5 40004 0 3.18593E-5
9-38601156-A-C p.Leu303Arg missense ANKRD18A 1 80612 1.24051E-5 40306 0 NA
9-38601166-G-A p.Gln300* stop_gained ANKRD18A 4 80668 4.9586E-5 40334 0 1.15099E-5
9-38601179-A-T p.Ala295Ala synonymous ANKRD18A 3 80638 3.72033E-5 40319 0 2.32658E-5
9-38601187-T-C p.Lys293Glu missense ANKRD18A 1 80550 1.24146E-5 40275 0 3.99904E-5
9-38601196-G-A p.His290Tyr missense ANKRD18A 3 80344 3.73394E-5 40172 0 4.02901E-5
9-38601202-C-T c.863-1G>A splice_acceptor ANKRD18A 2 80122 2.49619E-5 40061 0 NA
9-38601207-A-G c.863-6T>C splice_region ANKRD18A 1 80018 1.24972E-5 40009 0 NA
9-38603164-C-T p.Arg285His missense ANKRD18A 1 81200 1.23153E-5 40600 0 6.37714E-5
9-38603165-G-A p.Arg285Cys missense ANKRD18A 1 81216 1.23128E-5 40608 0 9.32662E-5
9-38603166-T-C p.Glu284Glu synonymous ANKRD18A 1 81218 1.23125E-5 40609 0 6.25E-4
9-38603174-T-A p.Arg282* stop_gained ANKRD18A 5 81240 6.1546E-5 40620 0 3.20579E-5
9-38603176-T-C p.Lys281Arg missense ANKRD18A 2 81266 2.46105E-5 40633 0 NA
9-38603180-T-C p.Lys280Glu missense ANKRD18A 1 81270 1.23047E-5 40635 0 NA
9-38603188-G-T p.Ala277Glu missense ANKRD18A 533 81188 0.00656501 40594 1 0.010625
9-38603192-G-T p.Pro276Thr missense ANKRD18A 2 81256 2.46136E-5 40628 0 6.37918E-5
9-38603214-C-T c.809-5G>A splice_region ANKRD18A 2 81154 2.46445E-5 40577 0 4.62022E-5
9-38603217-A-T c.809-8T>A splice_region ANKRD18A 1 81128 1.23262E-5 40564 0 4.61936E-5
9-38604856-C-T n.57+4G>A splice_region ANKRD18A 1 45962 2.17571E-5 22981 0 NA
9-38607419-T-A c.808+4A>T splice_region ANKRD18A 10 77300 1.29366E-4 38650 0 4.9613E-5
9-38607437-C-T p.Arg265Gln missense ANKRD18A 738 77262 0.00955191 38631 7 0.0131252
9-38607438-G-A p.Arg265* stop_gained ANKRD18A 5 77362 6.46312E-5 38681 0 6.25E-4
9-38607440-A-C p.Leu264Arg missense ANKRD18A 24 77432 3.09949E-4 38716 0 4.83746E-5
9-38607441-G-C p.Leu264Val missense ANKRD18A 1 77452 1.29112E-5 38726 0 4.83559E-5
9-38607467-T-C p.His255Arg missense ANKRD18A 3 77474 3.87227E-5 38737 0 4.89764E-5
9-38607477-TTTG-T p.Gln251del conservative_inframe_deletion ANKRD18A 2 77306 2.58712E-5 38653 0 3.1837E-5
9-38607485-C-T p.Arg249Gln missense ANKRD18A 2 77086 2.5945E-5 38543 0 5.10239E-5
9-38607486-G-A p.Arg249* stop_gained ANKRD18A 1 77094 1.29712E-5 38547 0 6.37308E-5
9-38607486-G-C p.Arg249Gly missense ANKRD18A 1 77096 1.29708E-5 38548 0 NA
9-38610267-T-A c.740+3A>T splice_region ANKRD18A 1 79656 1.2554E-5 39828 0 6.81663E-5
9-38610270-C-T p.Ser247Asn missense+splice_region ANKRD18A 1 79668 1.25521E-5 39834 0 3.18532E-5
9-38610281-A-G p.Ser243Ser synonymous ANKRD18A 24 79744 3.00963E-4 39872 0 6.25E-4
9-38610297-T-A p.Asp238Val missense ANKRD18A 1 79796 1.2532E-5 39898 0 NA
9-38610303-G-T p.Ala236Asp missense ANKRD18A 2 79792 2.50652E-5 39896 0 6.40771E-6
9-38610308-T-C p.Gln234Gln synonymous ANKRD18A 24 79808 3.00722E-4 39904 1 9.141E-4
9-38610310-G-C p.Gln234Glu missense ANKRD18A 2 79818 2.5057E-5 39909 0 4.8962E-5
9-38610311-G-T p.Gly233Gly synonymous ANKRD18A 1 79814 1.25291E-5 39907 0 NA
9-38610334-T-TA p.Ile226fs frameshift ANKRD18A 1 79822 1.25279E-5 39911 0 1.26953E-5
9-38610336-C-T p.Arg225His missense ANKRD18A 190 79704 0.00238382 39852 1 0.0109375
9-38610337-G-A p.Arg225Cys missense ANKRD18A 16 79822 2.00446E-4 39911 0 2.34984E-4
9-38610344-T-C p.Gln222Gln synonymous ANKRD18A 2 79808 2.50601E-5 39904 0 6.34969E-6
9-38610355-G-A p.Leu219Leu synonymous ANKRD18A 5 79788 6.26661E-5 39894 0 1.08103E-4
9-38610357-A-T p.Leu218His missense ANKRD18A 3 79774 3.76062E-5 39887 0 6.36821E-5
9-38610359-G-A p.Thr217Thr synonymous ANKRD18A 278 79758 0.00348554 39879 1 0.00675073
9-38610360-G-A p.Thr217Ile missense ANKRD18A 1 79768 1.25364E-5 39884 0 NA
9-38610365-G-A p.Ile215Ile synonymous ANKRD18A 8 79746 1.00319E-4 39873 0 1.59215E-4
9-38610381-T-C p.His210Arg missense ANKRD18A 6 79724 7.52596E-5 39862 0 2.94522E-4
9-38610383-C-T p.Gln209Gln synonymous ANKRD18A 8 79720 1.00351E-4 39860 0 1.47842E-4
9-38610389-T-A p.Ala207Ala synonymous ANKRD18A 1 79662 1.2553E-5 39831 0 NA
9-38610400-G-A p.Leu204Phe missense ANKRD18A 1 79572 1.25672E-5 39786 0 NA
9-38611212-C-G p.Arg201Thr missense+splice_region ANKRD18A 1 81656 1.22465E-5 40828 0 2.26405E-5
9-38611225-C-T p.Asp197Asn missense ANKRD18A 2 81618 2.45044E-5 40809 0 NA
9-38611228-C-T p.Val196Ile missense ANKRD18A 1 81564 1.22603E-5 40782 0 1.62866E-5
9-38611248-T-G p.Asn189Thr missense ANKRD18A 1 81572 1.22591E-5 40786 0 NA
9-38611251-T-C p.Lys188Arg missense ANKRD18A 1 81542 1.22636E-5 40771 0 6.37471E-5
9-38611269-A-C p.Met182Arg missense ANKRD18A 9 81422 1.10535E-4 40711 0 2.35665E-4
9-38611284-G-A p.Ser177Phe missense ANKRD18A 113 81094 0.00139344 40547 0 0.00967742
9-38611295-A-G p.Phe173Phe synonymous ANKRD18A 1 80884 1.23634E-5 40442 0 8.21531E-6
9-38611308-G-T p.Thr169Asn missense ANKRD18A 1 80590 1.24085E-5 40295 0 9.55718E-5
9-38611324-A-C c.496-6T>G splice_region ANKRD18A 1 79852 1.25232E-5 39926 0 NA
9-38615587-G-A c.495+4C>T splice_region ANKRD18A 5 80322 6.22494E-5 40161 0 6.36821E-5
9-38615598-A-G p.Leu163Pro missense ANKRD18A 2 80506 2.48429E-5 40253 0 3.1735E-5
9-38615607-A-G p.Ile160Thr missense ANKRD18A 2 80932 2.47121E-5 40466 0 1.40536E-5
9-38615617-G-A p.His157Tyr missense ANKRD18A 1 81184 1.23177E-5 40592 0 4.10789E-6
9-38615620-G-A p.His156Tyr missense ANKRD18A 3 81244 3.69258E-5 40622 0 1.17855E-5
9-38615629-G-A p.Leu153Leu synonymous ANKRD18A 1369 81430 0.016812 40715 15 0.0236564
9-38615634-T-C p.Glu151Gly missense ANKRD18A 98 81658 0.00120013 40829 0 0.00557289
9-38615640-A-T p.Leu149Gln missense ANKRD18A 1 81818 1.22222E-5 40909 0 NA
9-38615648-C-A p.Gly146Gly synonymous ANKRD18A 1 82008 1.21939E-5 41004 0 NA
9-38615653-T-C p.Lys145Glu missense ANKRD18A 1 82106 1.21794E-5 41053 0 6.25782E-4
9-38615654-AT-A p.Asn144fs frameshift ANKRD18A 1 82114 1.21782E-5 41057 0 NA
9-38615662-C-T p.Val142Met missense ANKRD18A 2 82216 2.43262E-5 41108 0 6.36943E-5
9-38615683-T-C p.Asn135Asp missense ANKRD18A 1 82452 1.21283E-5 41226 0 NA
9-38615686-C-T p.Gly134Ser missense ANKRD18A 1 82478 1.21244E-5 41239 0 NA
9-38615689-A-G p.Tyr133His missense ANKRD18A 1 82556 1.2113E-5 41278 0 3.1837E-5
9-38615694-T-C p.Asp131Gly missense ANKRD18A 3 82614 3.63135E-5 41307 0 NA
9-38615698-C-T p.Glu130Lys missense ANKRD18A 34355 82132 0.41829 41066 7296 0.428194
9-38615705-TG-T p.Pro127fs frameshift ANKRD18A 2 82710 2.41809E-5 41355 0 NA
9-38615709-T-C p.Asn126Ser missense ANKRD18A 11 82740 1.32947E-4 41370 0 3.59118E-5
9-38615714-G-A p.Gly124Gly synonymous ANKRD18A 14 82770 1.69143E-4 41385 0 9.2838E-5
9-38615723-C-T p.Leu121Leu synonymous ANKRD18A 1 82858 1.20688E-5 41429 0 NA
9-38615732-G-A p.Ile118Ile synonymous ANKRD18A 3 82858 3.62065E-5 41429 0 1.19892E-5
9-38615744-C-T p.Glu114Glu synonymous ANKRD18A 12 82914 1.44728E-4 41457 0 1.91022E-4
9-38615752-G-A p.Gln112* stop_gained ANKRD18A 1 82906 1.20619E-5 41453 0 8.62114E-6
9-38615758-G-A p.His110Tyr missense ANKRD18A 2 82880 2.41313E-5 41440 0 3.18431E-5
9-38615768-T-A c.322-4A>T splice_region ANKRD18A 1 82816 1.2075E-5 41408 0 5.30872E-5
9-38615922-T-C c.321+5A>G splice_region ANKRD18A 4 83314 4.80111E-5 41657 0 4.06438E-5
9-38615927-C-T p.Lys107Lys splice_region+synonymous ANKRD18A 1 83306 1.20039E-5 41653 0 NA
9-38615931-A-G p.Met106Thr missense ANKRD18A 4 83316 4.801E-5 41658 0 NA
9-38615932-T-C p.Met106Val missense ANKRD18A 1 83316 1.20025E-5 41658 0 NA
9-38615940-G-A p.Thr103Ile missense ANKRD18A 1 83322 1.20016E-5 41661 0 5.36228E-6
9-38615948-T-C p.Leu100Leu synonymous ANKRD18A 2 83340 2.39981E-5 41670 0 NA
9-38615951-T-A p.Arg99Ser missense ANKRD18A 2 83338 2.39987E-5 41669 0 1.1165E-4
9-38615955-T-G p.Asp98Ala missense ANKRD18A 1 83340 1.1999E-5 41670 0 NA
9-38615962-T-C p.Ile96Val missense ANKRD18A 2 83338 2.39987E-5 41669 0 8.72956E-5
9-38615966-G-A p.Ile94Ile synonymous ANKRD18A 6 83332 7.20012E-5 41666 0 1.3919E-4
9-38615966-G-T p.Ile94Ile synonymous ANKRD18A 2 83332 2.40004E-5 41666 0 NA
9-38615971-G-C p.Gln93Glu missense ANKRD18A 2 83336 2.39992E-5 41668 0 NA
9-38615972-G-A p.Cys92Cys synonymous ANKRD18A 2 83330 2.4001E-5 41665 0 NA
9-38615973-C-T p.Cys92Tyr missense ANKRD18A 2 83334 2.39998E-5 41667 0 NA
9-38615979-C-T p.Arg90Lys missense ANKRD18A 2 83332 2.40004E-5 41666 0 NA
9-38616007-C-T p.Val81Met missense ANKRD18A 409 83246 0.00491315 41623 7 0.0102866
9-38616009-C-T p.Arg80His missense ANKRD18A 1 83248 1.20123E-5 41624 0 1.36906E-5
9-38616010-G-C p.Arg80Gly missense ANKRD18A 3 83244 3.60386E-5 41622 0 NA
9-38616010-G-A p.Arg80Cys missense ANKRD18A 1 83246 1.20126E-5 41623 0 NA
9-38616016-G-A p.His78Tyr missense ANKRD18A 66 83202 7.9325E-4 41601 0 0.00155991
9-38616043-T-G c.207-2A>C splice_acceptor ANKRD18A 1 82862 1.20683E-5 41431 0 NA
9-38620069-C-G c.206+8G>C splice_region ANKRD18A 490 79638 0.00615284 39819 18 0.0148082
9-38620077-C-T p.Arg69Lys missense+splice_region ANKRD18A 1 80046 1.24928E-5 40023 0 NA
9-38620079-G-A p.Asp68Asp splice_region+synonymous ANKRD18A 2 80114 2.49644E-5 40057 0 NA
9-38620081-C-T p.Asp68Asn missense ANKRD18A 1 80132 1.24794E-5 40066 0 6.32023E-6
9-38620090-C-G p.Asp65His missense ANKRD18A 1 80162 1.24747E-5 40081 0 NA
9-38620094-G-A p.Ala63Ala synonymous ANKRD18A 2 80186 2.4942E-5 40093 0 NA
9-38620100-C-T p.Leu61Leu synonymous ANKRD18A 3 80318 3.73515E-5 40159 0 NA
9-38620106-C-G p.Arg59Arg synonymous ANKRD18A 1 80388 1.24397E-5 40194 0 3.18857E-5
9-38620106-C-A p.Arg59Arg synonymous ANKRD18A 2 80388 2.48793E-5 40194 0 NA
9-38620118-C-G p.Thr55Thr synonymous ANKRD18A 2 80536 2.48336E-5 40268 0 5.61489E-6
9-38620123-G-A p.Leu54Leu synonymous ANKRD18A 1 80590 1.24085E-5 40295 0 3.18776E-5
9-38620125-C-T p.Cys53Tyr missense ANKRD18A 1 80592 1.24082E-5 40296 0 2.94489E-4
9-38620145-G-A p.Asp46Asp synonymous ANKRD18A 2 80644 2.48004E-5 40322 0 1.0992E-5
9-38620148-G-T p.Gly45Gly synonymous ANKRD18A 3 80618 3.72125E-5 40309 0 0.00239521
9-38620149-C-T p.Gly45Asp missense ANKRD18A 1 80666 1.23968E-5 40333 0 NA
9-38620152-T-C p.Lys44Arg missense ANKRD18A 1 80644 1.24002E-5 40322 0 3.18898E-5
9-38620172-C-A p.Lys37Asn missense ANKRD18A 2 80594 2.48157E-5 40297 0 1.71827E-5
9-38620175-C-T p.Arg36Arg synonymous ANKRD18A 1 80558 1.24134E-5 40279 0 2.87073E-4
9-38620180-G-A p.Leu35Leu synonymous ANKRD18A 111 80516 0.00137861 40258 2 0.0101311
9-38620181-T-C p.Glu34Glu synonymous ANKRD18A 1 80510 1.24208E-5 40255 0 NA
9-38620183-C-G p.Glu34Gln missense ANKRD18A 1 80512 1.24205E-5 40256 0 6.03362E-6
9-38620184-C-T p.Trp33* stop_gained ANKRD18A 1 80522 1.2419E-5 40261 0 NA
9-38620192-G-A p.Arg31Trp missense ANKRD18A 1 80514 1.24202E-5 40257 0 NA
9-38620205-C-T p.Pro26Pro synonymous ANKRD18A 1 80434 1.24326E-5 40217 0 6.30469E-6
9-38620211-C-G p.Ala24Ala synonymous ANKRD18A 1 80412 1.2436E-5 40206 0 3.18939E-5
9-38620221-T-G p.Gln21Pro missense ANKRD18A 21 80392 2.6122E-4 40196 0 1.91388E-4
9-38620227-A-C p.Met19Arg missense ANKRD18A 2 80350 2.48911E-5 40175 0 NA
9-38620232-G-A p.Ser17Ser synonymous ANKRD18A 1 80286 1.24555E-5 40143 0 NA
9-38620238-G-A p.Leu15Leu synonymous ANKRD18A 1 80296 1.24539E-5 40148 0 NA
9-38620243-C-A p.Ala14Ser missense ANKRD18A 1 80224 1.24651E-5 40112 0 NA
9-38620249-C-A p.Gly12Cys missense ANKRD18A 9 80216 1.12197E-4 40108 0 1.27755E-4
9-38620251-A-G p.Leu11Pro missense ANKRD18A 4 80196 4.98778E-5 40098 0 2.55307E-5
9-38620254-C-A p.Arg10Leu missense ANKRD18A 1 80166 1.24741E-5 40083 0 6.38937E-6
9-38620261-C-A p.Gly8Trp missense ANKRD18A 1 80108 1.24831E-5 40054 0 6.39853E-6
9-38620262-G-C p.Phe7Leu missense ANKRD18A 1 80090 1.2486E-5 40045 0 NA
9-38620273-G-C p.Leu4Val missense ANKRD18A 1 79970 1.25047E-5 39985 0 NA
9-38620278-C-T p.Arg2Lys missense ANKRD18A 2 79898 2.50319E-5 39949 0 4.8398E-5
9-38620325-G-A c.-43C>T 5_prime_UTR_premature_start_codon_gain ANKRD18A 1 77602 1.28863E-5 38801 0 NA
9-38620352-C-A c.-70G>T 5_prime_UTR_premature_start_codon_gain ANKRD18A 3 74198 4.04324E-5 37099 0 NA
9-38620363-A-C c.-81T>G 5_prime_UTR_premature_start_codon_gain ANKRD18A 1 70276 1.42296E-5 35138 0 1.45096E-4
9-38620399-C-A c.-117G>T 5_prime_UTR_premature_start_codon_gain ANKRD18A 3 63812 4.70131E-5 31906 0 NA
9-38620409-G-A c.-127C>T 5_prime_UTR_premature_start_codon_gain ANKRD18A 2 61942 3.22883E-5 30971 0 NA
9-38620427-A-G c.-145T>C 5_prime_UTR_premature_start_codon_gain ANKRD18A 1 59568 1.67875E-5 29784 0 NA
9-38620458-G-T c.-176C>A 5_prime_UTR_premature_start_codon_gain ANKRD18A 2 55448 3.60698E-5 27724 0 NA
9-38620458-G-A c.-176C>T 5_prime_UTR_premature_start_codon_gain ANKRD18A 1 55448 1.80349E-5 27724 0 NA
9-38620528-G-C c.-246C>G 5_prime_UTR_premature_start_codon_gain ANKRD18A 1 41724 2.3967E-5 20862 0 NA
9-38620528-G-A c.-246C>T 5_prime_UTR_premature_start_codon_gain ANKRD18A 1 41724 2.3967E-5 20862 0 NA
9-38620577-G-C c.-295C>G 5_prime_UTR_premature_start_codon_gain ANKRD18A 5 30076 1.66246E-4 15038 0 4.15282E-4